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Details for SOX10:c.481C>T, p.Arg161Cys

CHROMOSOME

22

GENOMIC COORDINATES

hg19	hg38
38374090	37978083

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.481C>T

PROTEIN CHANGE

p.Arg161Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.047053	None

DBSNP ID

1 combination linked to SOX10:c.481C>T, p.Arg161Cys

1 disease linked to SOX10:c.481C>T, p.Arg161Cys

Normosmic congenital hypogonadotropic hypogonadism

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